Canonical Allele Identifier: CA023450
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3732
ClinVar RCV Id: RCV000003930
dbSNP Id: rs121908036

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113388G>C , CM000681.2:g.11113388G>C GRCh38
NC_000019.9:g.11224064G>C , CM000681.1:g.11224064G>C GRCh37
NC_000019.8:g.11085064G>C NCBI36
NG_009060.1:g.29008G>C , LRG_274:g.29008G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000558518.6:c.1297G>C MANE Select ENSP00000454071.1:p.Asp433His
ENST00000252444.9:n.1551G>C
ENST00000455727.6:c.793G>C ENSP00000397829.2:p.Asp265His
ENST00000535915.5:c.1174G>C ENSP00000440520.1:p.Asp392His
ENST00000545707.5:c.916G>C ENSP00000437639.1:p.Asp306His
ENST00000557933.5:c.1297G>C ENSP00000453557.1:p.Asp433His
ENST00000558013.5:c.1297G>C ENSP00000453346.1:p.Asp433His
ENST00000558518.5:c.1297G>C ENSP00000454071.1:p.Asp433His
ENST00000559340.1:n.18G>C
ENST00000560173.1:n.296G>C
ENST00000560467.1:n.777G>C
NM_000527.4:c.1297G>C , LRG_274t1:c.1297G>C NP_000518.1:p.Asp433His
NM_001195798.1:c.1297G>C NP_001182727.1:p.Asp433His
NM_001195799.1:c.1174G>C NP_001182728.1:p.Asp392His
NM_001195800.1:c.793G>C NP_001182729.1:p.Asp265His
NM_001195803.1:c.916G>C NP_001182732.1:p.Asp306His
XM_011528010.1:c.1297G>C XP_011526312.1:p.Asp433His
XM_011528011.1:c.916G>C XP_011526313.1:p.Asp306His
XR_244074.2:n.1447G>C
XM_011528010.2:c.1297G>C XP_011526312.1:p.Asp433His
XR_001753685.2:n.1414G>C
XR_001753686.2:n.1414G>C
NM_000527.5:c.1297G>C MANE Select NP_000518.1:p.Asp433His
NM_001195798.2:c.1297G>C NP_001182727.1:p.Asp433His
NM_001195799.2:c.1174G>C NP_001182728.1:p.Asp392His
NM_001195800.2:c.793G>C NP_001182729.1:p.Asp265His
NM_001195803.2:c.916G>C NP_001182732.1:p.Asp306His